Idiopathic portal hypertension in an "inactive" HBV carrier: a case report

Idiopathic portal hypertension belongs to the group of non-cirrhotic portal hypertension, its etiology is still unknown but its prognosis is excellent. We report a case of 45 year old female with inactive hepatitis B virus (HBV) carrier status and persistently elevated alpha-fetoprotein (AFP), presented with features of portal hypertension and without evidence of cirrhosis or fibrosis on liver biopsy

Sarcoidosis-induced pericarditis in a patient with portopulmonary hypertension: a case report

Portopulmonary hypertension is a rare and severe complication of patients with cirrhosis. Sarcoidosis, a disease of unknown etiology, is also a cause of pulonary hypertension and right heart dysfunction. We report the case of a 51-year-old male patient, suffering from cirrhosis due to Wilson’s disease, portal hypertension and pulmonary hypertension (PH), who developed severe pericarditis. Wilson’s disease was diagnosed 8 years before his last admission to our hospital and was being successfully treated with D-penicillamine. PH was recognized 2 years before admission and being treated with bosentan. The patient complained for dyspnea at rest and the 2D echocardiogram revealed a significant amount of pericardial fluid. All other causes of acute pericarditis were excluded and his laboratory, imaging and histopathological investigation showed evidence of sarcoidosis. He underwent a therapy with corticosteroids (methylprednisolone) and his follow-up examination showed remarkable decrease of the levels of mean pulmonary artery pressure and pericardial fluid

Efficacy of Infliximab after Failure of Subcutaneous Anti-TNF Agents in Patients with Moderate to Severe Ulcerative Colitis

Aim: To assess the efficacy of infliximab in ulcerative colitis (UC) patients who had failed therapy with adalimumab or golimumab. Methods: Retrospective analysis of prospectively acquired data of all anti-TNF naive patients with moderate to severe UC who received adalimumab or golimumab in 4 tertiary referral centres. Patients with primary non response or secondary loss of response to adalimumab or golimumab received therapy with infliximab. Clinical response and remission rates were assessed at week 14 and 54 after initiation of infliximab. Results: Between September 2015 and September 2017, 29 of 58 (50%) anti-TNF naive patients with moderate to severe UC failed therapy with adalimumab (n=38) or golimumab (n=20). Twenty one of 29 (72.4%) patients were primary non responders and 8 (27.6%) patients lost response to adalimumab or golimumab. All these 29 patients received infliximab, while 15 (51.7%) were on concomitant azathioprine therapy. Eighteen (62.1%) and 10 (34.5%) patients showed clinical response and clinical remission at week 14 respectively, while 14 (48.3%) patients were on clinical remission at week 54 after initiation of infliximab. Azathioprine co-administration at the start of infliximab was associated with a greater proportion of patients achieving clinical remission at week 54 (10 of 15 patients on combination therapy vs 4 of 14 patients on infliximab monotherapy, p=0.04). Conclusions: A significant proportion of anti-TNF naive patients with moderate to severe UC who have failed 1st course therapy with subcutaneous anti-TNF agents can achieve clinical response and/or remission with 2nd course therapy with infliximab

Relative Adrenal Insufficiency in Cirrhotic Patients

Relative adrenal insufficiency (RAI) was demonstrated in patients with cirrhosis and liver failure. A relationship appears to exist between the severity of the liver disease and the presence of RAI. Neither the mechanism nor the exact prevalence of RAI is fully understood. There is though a hypothesis that low high-density lipoprotein (HDL) levels in this group of patients may be responsible for the insufficiency of cortisol. Several questions also arise about the way and the kind of cortisol (total cortisol, free cortisol, or even salivary cortisol) that should be measured. The presence of RAI in patients with cirrhosis is unquestionable, but still several studies should come up in order to properly define it and fully understand it

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive. It has been associated with mutations in TTC37 and SKIV2L genes, which encode proteins of the SKI complex that contributes to the cytosolic degradation of the messenger RNA by the cell’s exosome. We report a case of a male infant who suffered from typical symptoms and signs of trichohepatoenteric syndrome without immunodeficiency. The patient’s genetic testing showed a very rare mutation in SKIV2L gene’s 25 exons (p.Glu1038 fs*7 (c.3112_3140del)). Even though our patient was provided with total parenteral nutrition from birth, the child’s death in the third year of age highlights the severity of the disease and the poor prognosis of this particular type of genetic predisposition